Canonical Allele Identifier: CA340740618
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429805T>A , CM000663.2:g.68429805T>A GRCh38
NC_000001.10:g.68895488T>A , CM000663.1:g.68895488T>A GRCh37
NC_000001.9:g.68668076T>A NCBI36
NG_008472.1:g.25155A>T
NG_008472.2:g.25155A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1573A>T MANE Select ENSP00000262340.5:p.Thr525Ser
ENST00000262340.5:c.1573A>T ENSP00000262340.5:p.Thr525Ser
NM_000329.2:c.1573A>T NP_000320.1:p.Thr525Ser
XM_017002027.1:c.1297A>T XP_016857516.1:p.Thr433Ser
NM_000329.3:c.1573A>T MANE Select NP_000320.1:p.Thr525Ser